20q13.2CNV Type: Deletion-Duplication
Largest CNV size: 359534 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Global increases in both common and rare copy number load associated with autism.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
927
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
54931
0
1
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
29748
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
23516
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
337000
0
2
2
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
371943
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
297914
0
2
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
500000
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
359534
0
1
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
10844
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
54932
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
8355
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
353739
23
4
27
schmitz-abe_20_ASD_discovery_cases
ASD probands rom 187 families from the Homozygosity Mapping Collaborative of Autism (HMCA); 22% of families had more than one affected child, and 66% of families were consanguineous.
255
Diagnosis of autism or ASD made by a neurologist, child psychiatrist, or psychologist; DSM-IV-R criteria confirmed in all individuals with an Autism diagnosis
N/A
N/A
20201
4
0
4
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
10844
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
116670
1
0
1
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
0
0
0
0
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
6180
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
297914
1
4
5
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
359534
0
1
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
34622
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
8355
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
339235
14
4
18
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
schmitz-abe_20_ASD_discovery_cases
Middle Eastern
Array SNP
Affymetrix 6.0, Affymetrix 500K
qPCR
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
51767905
51768832
928
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5030_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
53366477
53421408
54932
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1067302
Autism
51811441
51841188
29748
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case688-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
51966274
51989790
23517
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-14002.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
51420056
51750054
329999
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU1512301
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
53470075
53511780
41706
GRCh38
Duplication
Yes
girirajan_13b_ASD_discovery_cases-9405102860
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
53299635
53671578
371944
GRCh38
Deletion
No
krumm_15_ASD_discovery_cases-case12648.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
51432066
51729978
297913
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14002.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
51432066
51729978
297913
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU3941304
N/A
M
ASD
52098461
52595461
497001
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12648.p1
NA
F
ASD
NA
NA
51401730
51761261
359532
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
54031269
54042112
10844
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5030_4
NA
M
ASD
NA
NA
53366477
53421408
54932
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case63586-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
51290947
51299301
8355
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
56278714
56291103
12390
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
52068114
52079310
11197
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11159.p1
12.9
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 109; verbal IQ, 130
54793941
54803146
9206
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11247.p1
5.8
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
53650204
53672704
22501
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11645.p1
8.7
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
54789243
54803146
13904
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11714.p1
6.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 99
51233630
51248923
15294
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11724.p1
10.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
51233630
51248923
15294
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11893.p1
8.3
F
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30
51948629
51951072
2444
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11939.p1
7.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
52065718
52072625
6908
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11998.p1
5.2
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 103; verbal IQ, 111
53680855
53731558
50704
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12015.p1
7.2
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 92; verbal IQ, 60
51233630
51248923
15294
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12052.p1
7.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
56279986
56281505
1520
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12144.p1
4.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 93; verbal IQ, 81
54789243
54803146
13904
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12153.p1
11.1
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ,66 ; verbal IQ, 51
51233630
51248923
15294
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12161.p1
6.3
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 95; verbal IQ, 122
52670710
52678553
7844
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12180.p1
16.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
54789243
54803146
13904
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12235.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
52024259
52027973
3715
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12301.p1
13.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 115; verbal IQ, 122
51233630
51248923
15294
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12346.p1
13.4
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 77; verbal IQ, 106
54789243
54803146
13904
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12444.p1
9.5
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
51231717
51248923
17207
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12648.p1
9.8
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
51403665
51757402
353738
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13019.p1
5.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
54789243
54803146
13904
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13073.p1
4.8
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 60; verbal IQ, 25
54036316
54044202
7887
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13082.p1
6
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 67; verbal IQ, 61
51233630
51248923
15294
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13095.p1
9.8
M
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
51233630
51248923
15294
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13169.p1
13.4
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 62; verbal IQ, 37
51233630
51248923
15294
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13216.p1
4.8
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 93
51233630
51248923
15294
GRCh38
Deletion
No
schmitz-abe_20_ASD_discovery_cases-caseAU-1801
N/A
M
ASD
Proband born to non-consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion did not segregate with ASD in this family.
54026623
54046823
20201
GRCh38
Deletion
Yes
schmitz-abe_20_ASD_discovery_cases-caseAU-6501
N/A
M
ASD
Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion segregated with ASD in this family.
54026623
54046823
20201
GRCh38
Deletion
Yes
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
54031269
54042112
10844
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036023299_
N/A
N/A
Control
No previous psychiatric history
54821974
54938644
116671
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split963
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
52648368
52654547
6180
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control11181.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
54162716
54165833
3118
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11638.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
54058069
54058734
666
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12648.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
51432066
51729978
297913
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13250.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
56370157
56373558
3402
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14002.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
51432066
51729978
297913
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-12648.s1
NA
F
Control
NA
NA
51401730
51761261
359532
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27698
Control
51587274
51621895
34622
Unknown
Duplication
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
52068114
52079310
11197
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11154.s1
9.9
F
Control (matched sibling)
NA
NA
56264127
56265243
1117
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11178.s1
5.1
M
Control (matched sibling)
NA
NA
54030387
54044202
13816
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11181.s1
4.3
F
Control (matched sibling)
NA
NA
54160302
54167939
7638
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11446.s1
11
F
Control (matched sibling)
NA
NA
51233630
51248923
15294
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11458.s1
14.5
M
Control (matched sibling)
NA
NA
53267674
53285150
17477
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11470.s1
12.2
M
Control (matched sibling)
NA
NA
52036398
52040510
4113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11564.s1
6.3
F
Control (matched sibling)
NA
NA
52070017
52072777
2761
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11714.s1
4.3
M
Control (matched sibling)
NA
NA
51233630
51248923
15294
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11718.s1
23.6
F
Control (matched sibling)
NA
NA
51233630
51248923
15294
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11766.s1
4.3
F
Control (matched sibling)
NA
NA
52471706
52478024
6319
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12235.s1
6.7
M
Control (matched sibling)
NA
NA
52024259
52027973
3715
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12334.s1
4.2
M
Control (matched sibling)
NA
NA
53874604
53881298
6695
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12346.s1
15
M
Control (matched sibling)
NA
NA
54789243
54803146
13904
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12648.s1
11.3
F
Control (matched sibling)
NA
NA
51403665
51742898
339234
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
51233630
51248923
15294
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13018.s1
7.9
M
Control (matched sibling)
NA
NA
55401947
55410473
8527
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13169.s1
16
M
Control (matched sibling)
NA
NA
51233630
51248923
15294
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
ATP9A
engchuan_15_ASD_discovery_cases-case5030_4
Unknown
PPIAP10,TSHZ2
gai_11_ASD_discovery_cases-AU1067302
Inherited
0 genes
gazzellone_14_ASD_discovery_cases-case688-3
Unknown
Unknown
Unknown
girirajan_13a_ASD_discovery_cases-14002.p1
Unknown
Simplex
Unknown
MIR3194,NFATC2,ATP9A
girirajan_13a_ASD_discovery_cases-AU1512301
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
TSHZ2
girirajan_13b_ASD_discovery_cases-9405102860
Unknown
Unknown
Unknown
PPIAP10,RNU7-14P,ZNF217,TSHZ2
krumm_15_ASD_discovery_cases-case12648.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR3194,NFATC2,ATP9A
krumm_15_ASD_discovery_cases-case14002.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR3194,NFATC2,ATP9A
leppa_16_ASD_discovery_cases-AU3941304
Paternal
Simplex
Segregated (CNV not present in unaffected sibling)
ERP29P1,MRPS33P4,ZFP64,LINC01524
levy_11_ASD_discovery_cases-12648.p1
Paternal
Simplex
Not segregated
MIR3194,NFATC2,ATP9A
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
BCAS1
pinto_10_ASD_discovery_cases-case5030_4
Agilent1M
maternal
NA
NA
PPIAP10,TSHZ2
prasad_12_ASD_discovery_cases-case63586-L
Unknown
Unknown
Unknown
TSHZ2
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11073.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZFP64
sanders_11_ASD_discovery_cases-11159.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11247.p1
Paternal
Simplex (quad-proband matched)
Segregated
RNU7-14P
sanders_11_ASD_discovery_cases-11645.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11714.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11724.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11893.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11939.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZFP64
sanders_11_ASD_discovery_cases-11998.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12015.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12052.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12144.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12153.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12161.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12180.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12235.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12301.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12346.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12444.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12648.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3194,NFATC2,ATP9A
sanders_11_ASD_discovery_cases-13019.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13073.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BCAS1
sanders_11_ASD_discovery_cases-13082.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13095.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13169.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13216.p1
Paternal
Simplex (quad-proband matched)
Not segregated
schmitz-abe_20_ASD_discovery_cases-caseAU-1801
qPCR
Both parents
Unknown
Not segregated
BCAS1
schmitz-abe_20_ASD_discovery_cases-caseAU-6501
qPCR
Both parents
Simplex
Segregated
BCAS1
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
BCAS1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036023299_
Unknown
RNU4ATAC7P
kanduri_15_ASD_discovery_controls-control_split963
Unknown
BCAS1 (intronic)
krumm_15_ASD_discovery_controls-control11181.s1
Illumina 1M
Paternal
CYP24A1
krumm_15_ASD_discovery_controls-control11638.s1
Illumina 1MDuo
Maternal
BCAS1
krumm_15_ASD_discovery_controls-control12648.s1
Illumina 1MDuo
Paternal
MIR3194,NFATC2,ATP9A
krumm_15_ASD_discovery_controls-control13250.s1
1M-Duov3
Paternal
AURKA
krumm_15_ASD_discovery_controls-control14002.s1
Omni2.5-4v1
Paternal
MIR3194,NFATC2,ATP9A
levy_11_ASD_discovery_controls-12648.s1
Paternal
Simplex
NA
MIR3194,NFATC2,ATP9A
nord_11_ASD_discovery_controls-04C27698
ZNF217
sanders_11_ASD_discovery_controls-11073.s1
Maternal
Simplex (quad)
NA
ZFP64
sanders_11_ASD_discovery_controls-11154.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11178.s1
Maternal
Simplex (quad)
NA
BCAS1
sanders_11_ASD_discovery_controls-11181.s1
Paternal
Simplex (quad)
NA
CYP24A1
sanders_11_ASD_discovery_controls-11446.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11458.s1
Maternal
Simplex (quad)
NA
TSHZ2
sanders_11_ASD_discovery_controls-11470.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11564.s1
Paternal
Simplex (quad)
NA
ZFP64
sanders_11_ASD_discovery_controls-11714.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11718.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11766.s1
Maternal
Simplex (quad)
NA
LINC01524
sanders_11_ASD_discovery_controls-12235.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12334.s1
Maternal
Simplex (quad)
NA
SUMO1P1
sanders_11_ASD_discovery_controls-12346.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12648.s1
Paternal
Simplex (quad)
NA
MIR3194,NFATC2,ATP9A
sanders_11_ASD_discovery_controls-12674.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13018.s1
Paternal
Simplex (quad)
NA
LINC01440
sanders_11_ASD_discovery_controls-13169.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available